Variant report

Variant	nsv983778
Chromosome Location	chr14:47429735-47434040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563936074	chr14:47430002-47430003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200964540	chr14:47430005-47430006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371132234	chr14:47430006-47430007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531303210	chr14:47430012-47430013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551014380	chr14:47430020-47430021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143325420	chr14:47430035-47430036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191219972	chr14:47430052-47430053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533297273	chr14:47430078-47430079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548793237	chr14:47430079-47430080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373717382	chr14:47430080-47430081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10606201	chr14:47430106-47430107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113439506	chr14:47430112-47430113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566599740	chr14:47430129-47430130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567020110	chr14:47430130-47430131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111257475	chr14:47430132-47430133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200687069	chr14:47430139-47430140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112830410	chr14:47430140-47430141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539775019	chr14:47430150-47430151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111827439	chr14:47430152-47430153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570575174	chr14:47430153-47430154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36040974	chr14:47430154-47430155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556217448	chr14:47430156-47430157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57182570	chr14:47430168-47430169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568143810	chr14:47430173-47430174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574666043	chr14:47430187-47430188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541669477	chr14:47430204-47430205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529832700	chr14:47430256-47430257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371889659	chr14:47430260-47430261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74588117	chr14:47430297-47430298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182269766	chr14:47430302-47430303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200228387	chr14:47430321-47430322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201378962	chr14:47430324-47430325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571869302	chr14:47430376-47430377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4453370	chr14:47430414-47430415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375548869	chr14:47430507-47430508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369839263	chr14:47430570-47430571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76544372	chr14:47430630-47430631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186898016	chr14:47430642-47430643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112665550	chr14:47430662-47430663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549736511	chr14:47430701-47430702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563082399	chr14:47430707-47430708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530417042	chr14:47430752-47430753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548856495	chr14:47430761-47430762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377207576	chr14:47430770-47430771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567083297	chr14:47430799-47430800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148344795	chr14:47430808-47430809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552416640	chr14:47430809-47430810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570907553	chr14:47430830-47430831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537891969	chr14:47430840-47430841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200719263	chr14:47430855-47430856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47430000-47437000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:47431400-47431800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:47433200-47434000	Enhancers	Liver	Liver
4	chr14:47433400-47433800	Enhancers	Fetal Kidney	kidney

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